REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - LIVER ORTHOTOPIC TRANSPLANTATION IN NIEMANN-PICK DISEASE TYPE-A

被引:39
|
作者
DALOZE, P
DELVIN, EE
CORMAN, JL
BETTEZ, P
TOUSSI, T
机构
[1] SHRINERS HOSP CRIPPLED CHILDREN,GENET UNIT,MONTREAL H3G 1A6,QUEBEC,CANADA
[2] UNIV MONTREAL,HOP NOTRE DAME,DEPT SURG,TRANSPLANTAT UNIT,MONTREAL 101,QUEBEC,CANADA
[3] UNIV MONTREAL,HOP NOTRE DAME,DEPT PATHOL,MONTREAL 101,QUEBEC,CANADA
[4] UNIV MONTREAL,HOP NOTRE DAME,DEPT PEDIAT,MONTREAL 101,QUEBEC,CANADA
[5] MCGILL UNIV,DEPT PEDIAT,MONTREAL H3C 3G1,QUEBEC,CANADA
[6] MCGILL UNIV,DEPT SURG,MONTREAL H3C 3G1,QUEBEC,CANADA
来源
关键词
D O I
10.1002/ajmg.1320010209
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:229 / 239
页数:11
相关论文
共 50 条
  • [41] ACID SPHINGOMYELINASE DEFICIENT MICE - A MODEL OF TYPE-A AND TYPE-B NIEMANN-PICK DISEASE
    HORINOUCHI, K
    ERLICH, S
    PERL, DP
    FERLINZ, K
    BISGAIER, CL
    SANDHOFF, K
    DESNICK, RJ
    STEWART, CL
    SCHUCHMAN, EH
    NATURE GENETICS, 1995, 10 (03) : 288 - 293
  • [42] DEFICIENCY OF PHOSPHOLIPASE-C IN NIEMANN-PICK DISEASE
    WHERRETT, JR
    HUTERER, S
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1983, 10 (02) : 129 - 129
  • [43] Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf
    Saunders, G. K.
    Wenger, D. A.
    VETERINARY PATHOLOGY, 2008, 45 (02) : 201 - 202
  • [44] Niemann-Pick Disease versus acid sphingomyelinase deficiency
    Lozano, J
    Morales, A
    Cremesti, A
    Fuks, Z
    Tilly, JL
    Schuchman, E
    Gulbins, E
    Kolesnick, R
    CELL DEATH AND DIFFERENTIATION, 2001, 8 (01): : 100 - 102
  • [45] SPHINGOSYL-PHOSPHORYLCHOLINE IN NIEMANN-PICK DISEASE BRAIN - ACCUMULATION IN TYPE-A BUT NOT IN TYPE-B
    RODRIGUEZLAFRASSE, C
    VANIER, MT
    JOURNAL OF NEUROCHEMISTRY, 1993, 61 : S101 - S101
  • [46] Niemann-Pick disease type B in pregnancy
    Porter, KB
    Diebel, D
    Jazayeri, A
    OBSTETRICS AND GYNECOLOGY, 1997, 89 (05): : 860 - 860
  • [47] Cataplexy in Niemann-Pick disease type C
    Boor, R
    Reitter, B
    KLINISCHE PADIATRIE, 1997, 209 (02): : 88 - 90
  • [48] Therapies in the Niemann-Pick type C disease
    Chabrol, B.
    ARCHIVES DE PEDIATRIE, 2010, 17 : S54 - S57
  • [49] NIEMANN-PICK DISEASE TYPE-A IN FETAL LIFE - CHEMICAL AND HISTOCHEMICAL STUDIES IN 2 FETUSES
    KLIBANSKY, C
    CHAZAN, S
    SCHOENFELD, A
    ABRAMOVICI, A
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1979, 15 (01): : 84 - 84
  • [50] Early Miglustat Therapy in Infantile Niemann-Pick Disease Type C
    Di Rocco, Maja
    Dardis, Andrea
    Madeo, Annalisa
    Barone, Rita
    Fiumara, Agata
    PEDIATRIC NEUROLOGY, 2012, 47 (01) : 40 - 43